Canonical Allele Identifier: CA2346475238

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228917C= , CM000682.2:g.3228917C=	GRCh38
NC_000020.10:g.3209563C= , CM000682.1:g.3209563C=	GRCh37
NC_000020.9:g.3157563C=	NCBI36
NG_017072.1:g.15325G=
NG_012093.2:g.25051C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2113G= MANE Select	ENSP00000493503.1:p.Ala705=
ENST00000644011.1:c.2044G=	ENSP00000496214.1:p.Ala682=
ENST00000644692.1:c.1984G=	ENSP00000493824.1:p.Ala662=
ENST00000647296.1:c.1999G=	ENSP00000495050.1:p.Ala667=
ENST00000380056.7:c.2161G=	ENSP00000369396.3:p.Ala721=
ENST00000380059.7:c.2242G=	ENSP00000369399.3:p.Ala748=
ENST00000474451.5:c.*261G=	ENSP00000476859.1:n.*261G=
ENST00000539553.6:c.2113G=	ENSP00000441370.1:p.Ala705=
NM_001174089.1:c.2113G=	NP_001167560.1:p.Ala705=
NM_001174090.1:c.2242G=	NP_001167561.1:p.Ala748=
NM_032034.3:c.2161G=	NP_114423.1:p.Ala721=
XM_005260856.3:c.2482G=	XP_005260913.1:p.Ala828=
XM_005260857.1:c.2056G=	XP_005260914.1:p.Ala686=
XM_011529383.1:c.2080G=	XP_011527685.1:p.Ala694=
XM_011529384.1:c.2056G=	XP_011527686.1:p.Ala686=
XM_011529385.1:c.2056G=	XP_011527687.1:p.Ala686=
XR_937167.1:n.2211G=
NM_001363745.1:c.1999G=	NP_001350674.1:p.Ala667=
NR_135000.1:n.2211G=
XM_005260856.5:c.2482G=	XP_005260913.1:p.Ala828=
XM_011529383.3:c.2080G=	XP_011527685.1:p.Ala694=
XM_017028093.1:c.2476G=	XP_016883582.1:p.Ala826=
XM_017028094.1:c.2056G=	XP_016883583.1:p.Ala686=
XM_017028096.1:c.2056G=	XP_016883585.1:p.Ala686=
XR_001754419.1:n.2656G=
XR_001754420.2:n.2636G=
NM_001174089.2:c.2113G= MANE Select	NP_001167560.1:p.Ala705=
NM_001363745.2:c.1999G=	NP_001350674.1:p.Ala667=
NM_001174090.2:c.2242G=	NP_001167561.1:p.Ala748=
NM_032034.4:c.2161G=	NP_114423.1:p.Ala721=
NM_001400277.1:c.2056G=	NP_001387206.1:p.Ala686=
NM_001400278.1:c.2056G=	NP_001387207.1:p.Ala686=
NM_001400279.1:c.2056G=	NP_001387208.1:p.Ala686=
NM_001400280.1:c.2128G=	NP_001387209.1:p.Ala710=
NR_174470.1:n.2636G=
NR_174471.1:n.2621G=